Works matching DE "DE Lange's syndrome"
Results: 150
Conditional Creation and Rescue of Nipbl-Deficiency in Mice Reveals Multiple Determinants of Risk for Congenital Heart Defects.
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- PLoS Biology, 2016, v. 14, n. 9, p. 1, doi. 10.1371/journal.pbio.2000197
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- Article
Cornelia de Lange Syndrome mutations in SMC1A cause cohesion defects in yeast.
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- Genetics, 2023, v. 225, n. 2, p. 1, doi. 10.1093/genetics/iyad159
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- Article
Genetic and genomic analyses of Drosophila melanogaster models of chromatin modification disorders.
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- Genetics, 2023, v. 224, n. 4, p. 1, doi. 10.1093/genetics/iyad061
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- Article
An eighteen month-old infant with Cornelia de Lange syndrome: a case report.
- Published in:
- 2015
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- Publication type:
- Case Study
Hipernatremik Dehidratasyon Atakları ile Gelen Cornelia De Lange Sendromu.
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- Medical Journal of Bakirkoy, 2013, v. 9, n. 4, p. 186, doi. 10.5350/BTDMJB201309408
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- Article
Cornelia de Lange Sendromu ye Konjenital Umblikal Herni.
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- Journal of the Child / Çocuk Dergisi, 2013, v. 13, n. 1, p. 40, doi. 10.5222/j.child.2013.040
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- Article
Anesthetic management in Cornelia de Lange Syndrome.
- Published in:
- 2013
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- Publication type:
- Letter
Cornelia-de Lange syndrome in an Egyptian infant with unusual bone deformities.
- Published in:
- 2013
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- Publication type:
- Case Study
'Our nurse has been an amazing advocate for our non-verbal child'.
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- Nursing Standard, 2017, v. 31, n. 23, p. 65, doi. 10.7748/ns.31.23.65.s48
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- Article
Continuing Education Activities: May/June 2022.
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- Neonatal Network, 2022, v. 41, n. 3, p. 175, doi. 10.1891/0730-0832.42.175
- Publication type:
- Article
Cornelia de Lange Syndrome.
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- Neonatal Network, 2022, v. 41, n. 3, p. 145, doi. 10.1891/NN-2021-0011
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- Article
Cohesin loading factor Nipbl localizes to chromosome axes during mammalian meiotic prophase.
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- Cell Division, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1747-1028-8-12
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- Article
mRNA Quantification of NIPBL Isoforms A and B in Adult and Fetal Human Tissues, and a Potentially Pathological Variant Affecting Only Isoform A in Two Patients with Cornelia de Lange Syndrome.
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- International Journal of Molecular Sciences, 2017, v. 18, n. 3, p. 481, doi. 10.3390/ijms18030481
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- Article
Functional Characterization of NIPBL Physiological Splice Variants and Eight Splicing Mutations in Patients with Cornelia de Lange Syndrome.
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- International Journal of Molecular Sciences, 2014, v. 15, n. 6, p. 10350, doi. 10.3390/ijms150610350
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- Article
Clinical and genetic study of 20 patients from China with Cornelia de Lange syndrome.
- Published in:
- 2018
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- Publication type:
- journal article
Single-Cell Atlas of Patient-Derived Trophoblast Organoids in Ongoing Pregnancies.
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- Organoids, 2022, v. 1, n. 2, p. 106, doi. 10.3390/organoids1020009
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- Publication type:
- Article
Diphenhydramine-Refractory Antipsychotic-Induced Dystonia in an Adolescent Male With Cornelia de Lange Syndrome.
- Published in:
- 2019
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- Publication type:
- Case Study
Characteristics of autism spectrum disorder in Cornelia de Lange syndrome.
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- Journal of Child Psychology & Psychiatry, 2012, v. 53, n. 8, p. 883, doi. 10.1111/j.1469-7610.2012.02540.x
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- Article
Rare form of autosomal dominant familial Cornelia de Lange syndrome due to a novel duplication in SMC3.
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- Clinical Case Reports, 2017, v. 5, n. 8, p. 1277, doi. 10.1002/ccr3.1010
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- Article
Cornelia de lange syndrome and psoriasis: Report of a case.
- Published in:
- 2018
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- Publication type:
- Case Study
Cornelia de Lange syndrome.
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- Nursing Children & Young People, 2016, v. 28, n. 8, p. 19, doi. 10.7748/ncyp.28.8.19.s24
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- Article
Neuropsychiatric Functioning in CDLS: A Detailed Phenotype and Genotype Correlation.
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- Journal of Autism & Developmental Disorders, 2022, v. 52, n. 11, p. 4763, doi. 10.1007/s10803-021-05343-8
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- Publication type:
- Article
Repetitive and Self-injurious Behaviors in Children with Cornelia de Lange Syndrome.
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- Journal of Autism & Developmental Disorders, 2021, v. 51, n. 5, p. 1748, doi. 10.1007/s10803-020-04617-x
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- Article
An Observational Study of Social Interaction Skills and Behaviors in Cornelia de Lange, Fragile X and Rubinstein-Taybi Syndromes.
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- Journal of Autism & Developmental Disorders, 2020, v. 50, n. 11, p. 4001, doi. 10.1007/s10803-020-04440-4
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- Article
A Behavioural Assessment of Social Anxiety and Social Motivation in Fragile X, Cornelia de Lange and Rubinstein-Taybi Syndromes.
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- Journal of Autism & Developmental Disorders, 2020, v. 50, n. 1, p. 127, doi. 10.1007/s10803-019-04232-5
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- Article
Social Behavior and Characteristics of Autism Spectrum Disorder in Angelman, Cornelia de Lange, and Cri du Chat Syndromes.
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- American Journal on Intellectual & Developmental Disabilities, 2013, v. 118, n. 4, p. 262, doi. 10.1352/1944-7558-118.4.262
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- Article
Delineafing the Profile of Autism Spectrum Disorder Characteristics in Cornelia de Lange and Fragile X Syndromes.
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- American Journal on Intellectual & Developmental Disabilities, 2013, v. 118, n. 1, p. 55, doi. 10.1352/1944-7558-118.1.55
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- Article
DISFAGIA OROFARÍNGEA EM CRIANÇAS COM SÍNDROME CORNÉLIA DE LANGE.
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- Revista CEFAC, 2010, v. 12, n. 5, p. 803, doi. 10.1590/S1516-18462010005000111
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- Article
February 2010 Case Report: This Is a Case of Cornelia De Lange Syndrome.
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- 2012
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- Publication type:
- Letter
A systematic review of the management and outcomes of cecal and appendiceal volvulus in children.
- Published in:
- 2018
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- Publication type:
- journal article
Short tandem repeats in CdLS-causing genes: distribution and comparison.
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- Journal of Genetics, 2015, v. 94, p. 104, doi. 10.1007/s12041-014-0435-3
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- Publication type:
- Article
Molecular characterization of two novel intronic variants of NIPBL gene detected in unrelated Cornelia de Lange syndrome patients.
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- 2019
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- Publication type:
- Case Study
Granulomatous rosacea in Cornelia de Lange syndrome.
- Published in:
- 2009
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- Publication type:
- Letter
A novel mosaic variant on SMC1A reported in buccal mucosa cells, albeit not in blood, of a patient with Cornelia de Lange-like presentation.
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- Cold Spring Harbor Molecular Case Studies, 2020, v. 6, n. 3, p. 1, doi. 10.1101/mcs.a005322
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- Article
Rare neurodevelopmental disorders: your guide: How families can be key in boosting learning disability nurses' understanding of rare neurodevelopmental disorders.
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- Learning Disability Practice, 2024, v. 27, n. 1, p. 10, doi. 10.7748/ldp.27.1.10.s5
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- Publication type:
- Article
Cornelia de Lange syndrome.
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- Learning Disability Practice, 2018, v. 21, n. 2, p. 19, doi. 10.7748/ldp.21.2.19.s20
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- Publication type:
- Article
Spinal anesthesia in a child with Brachmann-de Lange (Cornelia de Lange) syndrome.
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- Journal of Anesthesia, 2010, v. 24, n. 6, p. 942, doi. 10.1007/s00540-010-1026-y
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- Publication type:
- Article
Behavioral phenotype and autism spectrum disorders in Cornelia de Lange syndrome.
- Published in:
- 2015
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- Publication type:
- Case Study
Nasal polyposis in pediatric patients with Cornelia de Lange syndrome: endoscopic diagnosis, treatment and follow up in two case reports.
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- Italian Journal of Pediatrics, 2023, v. 49, n. 1, p. 1, doi. 10.1186/s13052-023-01454-3
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- Publication type:
- Article
Unusual association of non-anaplastic Wilms tumor and Cornelia de Lange syndrome: case report.
- Published in:
- 2016
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- Publication type:
- journal article
Looking through a glass darkly, I then seeing face to face.
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- JAAPA: Journal of the American Academy of Physician Assistants (Haymarket Media, Inc.), 2012, v. 25, n. 4, p. 65, doi. 10.1097/01720610-201204000-00016
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- Article
Multifactorial Origins of Heart and Gut Defects in nipbl-Deficient Zebrafish, a Model of Cornelia de Lange Syndrome.
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- PLoS Biology, 2011, v. 9, n. 10, p. 1, doi. 10.1371/journal.pbio.1001181
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- Publication type:
- Article
Genetic Origins of Birth Defects Revealed by New Animal Model.
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- PLoS Biology, 2011, v. 9, n. 10, p. 1, doi. 10.1371/journal.pbio.1001180
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- Publication type:
- Article
A Functional Mutation in HDAC8 Gene as Novel Diagnostic Marker for Cornelia De Lange Syndrome.
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- Cellular Physiology & Biochemistry (Karger AG), 2018, v. 47, n. 6, p. 2388, doi. 10.1159/000491613
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- Publication type:
- Article
Patients Carrying 9q31.1-q32 Deletion Share Common Features with Cornelia de Lange Syndrome.
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- Cellular Physiology & Biochemistry (Karger AG), 2015, v. 35, n. 1, p. 270, doi. 10.1159/000369694
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- Article
Cornelia de Lange syndrome: specific features for prenatal diagnosis.
- Published in:
- 2017
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- Publication type:
- journal article
OP27.06: Cornelia de Lange syndrome: new features for prenatal diagnosis.
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- Ultrasound in Obstetrics & Gynecology, 2014, v. 44, p. 128, doi. 10.1002/uog.13902
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- Article
Ultrasound detection of eyelashes: a clue for prenatal diagnosis of Cornelia de Lange syndrome.
- Published in:
- 2013
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- Publication type:
- Letter
Three-Dimensional Ultrasound Findings in Cornelia de Lange Syndrome: A Case Report.
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- Case Reports in Obstetrics & Gynecology, 2012, p. 1, doi. 10.1155/2012/568351
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- Publication type:
- Article
Cornelia de Lange Syndrome: A Newborn with Imperforate Anus and a NIPBL Mutation.
- Published in:
- Case Reports in Genetics, 2012, p. 1, doi. 10.1155/2012/247683
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- Publication type:
- Article